Jalili syndrome

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Classification according to ICD-10
H35.5 Hereditary retinal dystrophy
ICD-10 online (WHO version 2019)

The Jalili syndrome is a very rare congenital disease with a combination of cone dystrophy (an eye disease with death of the pin in the central retina) with Amelogenesis imperfecta (a congenital Zahnschmelzhypoplasie).

Synonym : cone-rod dystrophy - Amelogenesis imperfecta

The name refers to the first author of the first description from 1988 by the ophthalmologists IK Jalili and NJ Smith.

The syndrome should not be confused with the amaurosis-hypertrichosis syndrome, also known as "Jalili syndrome" .

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 30 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in CNNM4 - gene on chromosome 2 locus q11.2 basis.

Clinical manifestations

Clinical criteria are:

  • Manifestation in the newborn period
  • Amelogenesis imperfecta
  • Cone-rod dystrophy

literature

  • CM Maia, RA Machado, VL Gil-da-Silva-Lopes, E. Lustosa-Mendes, PH Rim, VO Dias, DR Martelli, LS Nasser, RD Coletta, H. Martelli-Júnior: Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene. In: European journal of medical genetics. Volume 61, number 7, July 2018, pp. 384-387, doi: 10.1016 / j.ejmg.2018.02.003 , PMID 29421602 .
  • N. Hirji, PD Bradley, S. Li, A. Vincent, ME Pennesi, AS Thomas, E. Heon, A. Bhan, OA Mahroo, A. Robson, CF Inglehearn, AT Moore, M. Michaelides: Jalili Syndrome: Cross Sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. In: American journal of ophthalmology. Volume 188, 04 2018, pp. 123–130, doi: 10.1016 / j.ajo.2018.01.029 , PMID 29421294 , PMC 5873517 (free full text).

Individual evidence

  1. ↑ a b c Jalili syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ IK Jalili, NJ Smith: A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. In: Journal of Medical Genetics . Volume 25, number 11, November 1988, pp. 738-740, doi: 10.1136 / jmg.25.11.738 , PMID 3236352 , PMC 1051576 (free full text).
  3. ↑ Jalili syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links